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PubPharm (41)
1
Clonal origin and genomic diversity in Lynch syndrome-associated endometrial cancer with multiple synchronous tumors : Identification of the pathogenicity of MLH1 p.L582H
enthalten in:
Genes, chromosomes & cancer
| 2024
von
Takahashi, K.
|
Yachida, N.
|
Tamura, R.
| +8
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2
Conversion therapy with pembrolizumab for a peritoneal metastasis of rectal cancer causing hydronephrosis in a patient with Lynch syndrome
enthalten in:
Clinical journal of gastroenterology
| 2024
von
Matsumoto, A.
|
Shimada, Y.
|
Nakano, M.
| +7
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3
A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant
enthalten in:
Human genome variation
| 2024
von
Nyuzuki, H.
|
Ozawa, J.
|
Nagasaki, K.
| +4
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4
Hypocarnitinemia in twins after maternal pivalate-conjugated antibiotic therapy
enthalten in:
Pediatrics international : official journal of the Japan Pediatric Society
| 2024
von
Fuse, T.
|
Aizawa, Y.
|
Nyuzuki, H.
| +3
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5
GPATCH4 contributes to nucleolus morphology and its dysfunction impairs cell viability
enthalten in:
Biochemical and biophysical research communications
| 2024
von
Kodera, K.
|
Hishida, R.
|
Sakai, A.
| +5
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6
A case of adolescent trichorhinophalangeal syndrome undergoing pelvic osteotomy for bilateral acetabular dysplasia
enthalten in:
Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
| 2023
von
Sawano, K.
|
Nyuzuki, H.
|
Nagasaki, K.
| +5
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7
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Kido, J.
|
Häberle, J.
|
Tanaka, T.
| +10
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8
A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns
enthalten in:
Children (Basel, Switzerland)
| 2023
von
Onuki, T.
|
Hiroshima, S.
|
Sawano, K.
| +4
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9
COMPOSITION FOR ENHANCING IMMUNE FUNCTION
enthalten in:
Europäisches Patentamt
| 2023
von
FUJINO TAKEHIKO
|
MAWATARI SHIRO
|
NIWASE SHAMIM
| +2
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10
COMPOSITION FOR ENHANCING IMMUNE FUNCTION
enthalten in:
Europäisches Patentamt
| 2023
von
FUJINO TAKEHIKO
|
MAWATARI SHIRO
|
NIWASE SHAMIM
| +2
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Medienart
41
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Zeitschriftentitel
4
Clinical journal of gastroenterology
4
Europäisches Patentamt
4
Pediatric radiology
3
Journal of human genetics
3
Pediatrics international : official journal of ...
2
American journal of medical genetics. Part A
2
Children (Basel, Switzerland)
2
Genetics in medicine : official journal of the ...
1
American Journal of Medical Genetics Part C: Se...
1
Biochemical and biophysical research communicat...
1
Clinical pediatric endocrinology : case reports...
1
Endocrine journal
1
FEBS Letters
1
FEBS letters
1
Genes, chromosomes & cancer
1
Hormone research in paediatrics
1
Human genome variation
1
IBRO reports
1
International journal of neonatal screening
1
Journal of inherited metabolic disease
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Thema
19
Journal Article
10
Case Reports
4
615
4
A61K: Preparations for medical, dental, or toil...
4
A61P: Specific therapeutic activity of chemical...
4
Achondroplasia
4
FGFR3
4
Hypochondroplasia
4
Lynch syndrome
4
Neonate
4
Radiography
4
Radiologic diagnosis
4
Research Support, Non-U.S. Gov't
4
Scoring system
4
che
4
newborn screening
3
Gastric metastasis
3
Gastric submucosal tumor
3
Letter
3
Small bowel adenocarcinoma
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Erscheinungszeitraum
25
2020-
16
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
39
Englisch
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